General Information of Disease (ID: DISP2K58)

Disease Name Gnb5-related intellectual disability-cardiac arrhythmia syndrome
Synonyms IDDCA; intellectual developmental disorder with cardiac arrhythmia; IDDCA; intellectual developmental disorder with cardiac arrhythmia
Disease Hierarchy
DISCPWH9: Autosomal recessive disease
DISP2K58: Gnb5-related intellectual disability-cardiac arrhythmia syndrome
Disease Identifiers
MONDO ID
MONDO_0014953
UMLS CUI
C5568877
OMIM ID
617173
MedGen ID
1800300
Orphanet ID
542306
SNOMED CT ID
1186711002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GNB5 OT3ZSAXH Strong Autosomal recessive [1]
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References

1 G5-RGS complexes are gatekeepers of hyperactivity involved in control of multiple neurotransmitter systems. Psychopharmacology (Berl). 2012 Feb;219(3):823-34. doi: 10.1007/s00213-011-2409-y. Epub 2011 Jul 16.